MEF2Cast

In today’s episode, we are joined by Caroline Claflin, parent to Darwin and co-founder of the MEF2C Family Foundation.

Caroline joins us to discuss Darwin’s journey to diagnosis, her adventures in being an MCHS parent, and tips and tricks learned along the way. We also speak about the MEF2C Family Foundation and its role in the community. Some highlights include:

• The power of a mother’s intuition and how it led her to seek diagnosis 

• The work that people with MCHS put in every day

• The therapies that have been most impactful for Darwin

• The importance of independence for children like Darwin

• The relationships between special needs and typical siblings

• Caroline’s experiences in advocating for resources

• The personal growth that comes from parenting someone with MCHS

• What Caroline’s hopes for the MEF2C Family Foundation are

And so much more!

If you liked this episode, please comment, review, and subscribe to hear more episodes like this one. 

If you have any questions, concerns, or are interested in being a guest, please reach out to us via Facebook or email.

Thank you to all of our listeners for their time. We love you all!

Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

Email us: [email protected]

In today’s episode, we are joined by Sam Fox, Spelling to Communicate (S2C) practitioner and owner of Beyond Speech Therapy Center in Munroe Falls, OH.

Sam joins us to discuss spelling as a means of communication for non-speaking/unreliably speaking people and the S2C system. Some highlights include:

• The philosophy and controversy around spelling 

• Who could benefit from spelling to communicate

• The challenges of apraxia and how spelling can help

• The relationship between the speller and communication partners

• The importance of presuming competence

• The doors that spelling can open for people

• Books, movies, and other media telling spellers’ stories

• The eloquence and insight that many spellers have

• Personal success stories of clients

And much more!

Please check out Beyond Speech Therapy Center at the links below:

https://www.beyondspeechtherapycenter.com/

https://www.facebook.com/BeyondSpeech/

Learn more about S2C and find a practitioner in your area here: i-asc.org

Some links to things mentioned during the episode:

Underestimated: An Autism Miracle- https://a.co/d/amu8OqX

Lights in the Darkness- https://a.co/d/4TZmOsu

Spellers: The Movie- https://www.youtube.com/watch?v=8h1rcLyznK0

The Telepathy Tapes- https://open.spotify.com/show/1zigaPaUWO4G9SiFV0Kf1c

If you liked this episode, please comment, review, and subscribe to hear more episodes like this one. 

If you have any questions, concerns, or are interested in being a guest, please reach out to us via Facebook or email.

Thank you to all of our listeners for their time. We love you all!

Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

Email us: [email protected]

In today’s episode, we are joined by James Kelly and Lorena In today’s episode, we are joined by James Kelly and Lorena García Fernández, founders of the MEF2C Foundation and parents to Elijah. James is also a board member for Rare Bird.

Lenora and James join us to discuss their journey to diagnosis with Elijah and how that inspired them to start the MEF2C Foundation. They tell us about the ins-and-outs of Elijah’s everyday life and tips and tricks they've picked up along the way. We also discuss their experience with using the ketogenic diet to control Elijah’s seizures. Next, we discuss the lessons learned parenting someone with MCHS and their approach to running their foundations. Finally, we discuss their vision for the future, both for Elijah and MCHS as a whole.

If you liked this episode, please comment, review, and subscribe to hear more episodes like this one. 

If you have any questions, concerns, or are interested in being a guest, please reach out to us via Facebook or email.

Thank you to all of our listeners for their time!

Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

Email us: [email protected]

Find the MEF2C Foundation: mef2cfoundation.org

Find Rare Bird: rare-bird.org

In today’s episode, we are joined by Erin Kindrachuk and Chris Kninitski, co-founders of the MEF2C Family Foundation and parents to Sam.

Erin and Chris join us to discuss Sam’s journey to diagnosis, what Sam’s life looks like now, and lessons they learned along the way. Next, we talk about the highs and lows of parenting someone with MCHS and how it has transformed them as people. Chris and Erin tell us about how they decided to help start the family foundation and how they hope the foundation can support the community. Finally, we discuss Chris and Erin’s hopes for the future for Sam, for the foundation, and the community at large.

If you liked this episode, please comment, review, and subscribe to hear more episodes like this one. 

If you have any questions, concerns, or are interested in being a guest, please reach out to us via Facebook or email.

Thank you to all of our listeners for their time!

Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

Email us: [email protected]

Find the MEF2C Family Foundation: mef2cfamilyfoundation.org

In today’s episode of the MEF2Cast, we interviewed Dr. Christopher Cowan, a neuroscientist studying neurodevelopmental conditions like MCHS. Dr Cowan joins us to discuss the role of MEF2C in the brain and its development and how that manifests in MCHS. Dr Cowan shares some insight on the relationship between autism and MCHS. We also discuss target site blockers (TSBs), a potential treatment for MCHS being studied in Dr. Cowan’s lab. Finally, we talk about the future of treatment and how the community can support the efforts of researchers like Dr. Cowan. 

If you liked this episode, please comment, review, and subscribe to hear more episodes like this one. 

If you have any questions, concerns, or are interested in being a guest, please reach out to us via Facebook or email.

Thank you to all of our listeners for their time!

Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

Email us: [email protected]

Learn more about Rare Bird, the organization supporting Dr. Cowan’s research: rare-bird.org

In today’s episode of the MEF2Cast, we interviewed Dr. Wendy Chung, a medical geneticist and Chair of Pediatrics at Boston Children’s Hospital and a researcher studying neurogenetic conditions like MCHS. Dr. Chung is a member of the Scientific Advisory Board for the US MEF2C Foundation; some of our listeners may have heard her speak at the foundation’s conference in October 2024. In this episode, we discuss the basics of MEF2C and MCHS, the importance of diagnosis, where we’re at in the process of finding a treatment, and what the future might look like. Additionally, Eli speaks briefly to issue some clarifications/corrections for previous episodes and discuss our plans to solicit questions/topics from our listeners.

If you liked this episode, please comment, review, and subscribe to hear more episodes like this one. 

If you have any questions, concerns, or are interested in being a guest, please reach out to us via Facebook or email.

Thank you to all of our listeners for their time!

Find us on Facebook: https://www.facebook.com/profile.php?id=61572393046749

Email us: [email protected]

Learn more about Dr. Chung and her work with the US MEF2C Foundation: https://www.usmef2cfoundation.org/

In this episode, we speak with Becky and Brandon, from Canada, about their son Bodie. We discuss Bodie's story, their journey with MCHS, and what everyday life looks like for their family. We hope you enjoy!

Takeaways:

Bodie's early signs included lack of eye contact and delayed milestones.

The importance of early intervention in developmental delays.

Navigating the healthcare system can vary significantly by country.

Communication challenges are a major concern for parents of children with MCHS.

Therapeutic approaches can lead to gradual progress in milestones.

Daycare can provide essential socialization and support for children with special needs.

Parents often face unique challenges in balancing family dynamics with special needs.

Finding positivity and strength in the journey of parenting a child with special needs.

Connecting with other parents can provide invaluable support and insights.

Acceptance of each child's unique timeline is crucial for parents.

This conversation explores the journey of Susan Simmons and her son Andrew, who has autism and MEF2C. Susan shares insights into Andrew's early development, the challenges of his diagnoses, and the emotional impact of discovering his ability to communicate. The discussion highlights the evolution of Andrew's communication methods and the family's ongoing journey towards understanding and advocacy. This conversation delves into the experiences of parenting a child with MF2C, focusing on communication, advocacy, and the emotional challenges faced by parents. The speakers discuss the importance of age-appropriate interactions, the need for effective communication methods, and the significance of building a supportive community. They also touch on the challenges of sleep, behavioral communication, and navigating medical and educational systems, while emphasizing the importance of love, patience, and understanding in parenting.

In this conversation, Meredith and Aleah share their experiences navigating the challenges of diagnosis, early intervention, and the emotional impact of raising children with unique needs. They discuss the importance of community support, advocacy, and the hope that drives them to create a better future for their children. The launch of the MEF2C Family Foundation aims to provide resources, connection, and empowerment for families facing similar challenges.takeaways

• Parenting neurodivergent children comes with unique challenges.
• The journey to diagnosis can be emotionally taxing.
• Community support is crucial for parents.
• Living in the present helps alleviate anxiety about the future.
• Sharing experiences with other parents fosters connection and understanding.
• Hope is a powerful motivator for advocacy and change.
• Early intervention can significantly impact a child's development.
• Parents often feel overwhelmed by the demands of therapy and support.
• The love from neurodivergent children is profound and transformative.
• Creating a foundation can help provide resources and support for families.

Enjoy this introduction for our new podcast where we explain who we are, why we started the podcast, how it will work, and give a brief overview of MEF2C Haploinsufficiency Syndrome.

Key takeaways include:

Creating a space for fellowship and connection within the MCHS community is essential.

The podcast will feature interviews with experts and parents to share insights on MCHS.

MCHS has a significant overlap with autism in terms of symptoms.

Understanding the MEF2C gene is crucial for grasping the implications of MCHS.

There are only about 400 known cases of MCHS globally, leading to limited support.

Diagnosis of MCHS can be challenging due to its rarity and symptom overlap with other conditions.

The podcast aims to provide practical information that is digestible and applicable to everyday life.

Community resources, such as Facebook groups, are invaluable for families affected by MCHS.

The hosts bring a mix of scientific understanding and personal experience to the conversation.

The goal is to educate and support families, caretakers, and medical professionals about MCHS.